title: Retesting for fragile X syndrome in cytogenetically normal males.
abstract: This case series describes four males who presented with learning and behavioural difficulties. In each case, the diagnosis of fragile X syndrome was delayed because of an initial false-negative cytogenetic result. Although most children are currently investigated for fragile X syndrome using highly sensitive and specific molecular techniques, there still remain a large number of older children who have been tested using only cytogenetic analysis. The clinical presentation of these four children and the reason for the occurrence of the false-negative results are considered. In addition, there is a discussion and illustration of how a screening checklist can be used to help clinicians to decide which children should be retested.
authors.affiliation: Harper House Children's Service, Radlett, Herts, UK.
authors.forename: P
authors.initials: P
authors.lastname: Gringras
authors.forename: A
authors.initials: A
authors.lastname: Barnicoat
mesh_terms: D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics / Q000592:standards*; D004252:DNA Mutational Analysis; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005188:False Negative Reactions; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D006801:Humans; D008297:Male; D010551:Personality / Q000145:classification; D013008:Somatotypes